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Familial adenomatous polyposis (FAP) is caused by germline mutations in the adenomatous polyposis coli (APC) gene. Two promoters, 1A and 1B, have been recognized in APC, and 1B is thought to have a minor role in the regulation of the gene. We have identified a novel deletion encompassing half of this promoter in the largest family (Family 1) of the Swedish Polyposis Registry. The mutation leads to
Palaeomagnetic and geochronological studies on mafic rocks in the Lake Ladoga region in South Russian Karelia provide a new, reliably dated Mesoproterozoic key paleopole for the East European Craton (Baltica). U-Pb dating on baddeleyite gives a crystallisation age of 1452 +/- 12 Ma for one of the studied dolerite dykes. A mean palaeomagnetic pole for the Mesoproterozoic dolerite dykes. Valaam sill
Objective. Although deep vein thrombosis (DVT) and pulmonary embolism (PE) are manifestations of the same disease, far from all patients develop PE. Our objective was to investigate risk-modifying factors. Setting, subjects and design. Between 1970 and 1982, 23 796 autopsies, representing 84% of all in-hospital deaths in the Malmo City population, were performed, using a standardized procedure. In
Phosphatidylinositol phosphate kinase (PIPK) is an enzyme involved in the regulation of cellular levels of phosphoinositides involved in various physiological processes, such as cytoskeletal organization, ion channel activation, and vesicle trafficking. In animals, research has focused on the modes of activation and function of PIPKs, providing an understanding of the importance of plasma membrane
Navigate PD was an educational program established to supplement existing guidelines and provide recommendations on the management of Parkinson's disease (PD) refractory to oral/transdermal therapies. It involved 103 experts from 13 countries overseen by an International Steering Committee (ISC) of 13 movement disorder specialists. The ISC identified 71 clinical questions important for device-aide
To investigate, within the first 2 years of diagnosis with rheumatoid arthritis (RA), associations between disease-related measures and cardiovascular disease (CVD) and mortality in patients with RA onset before and after 65 years of age.
The Sao Francisco Craton (SFC) is an Archaean craton that hosts a significant number of mafic intrusions. Previous attempts to date the igneous emplacement of these rocks are limited to a few dates of poor precision. Here, two dyke swarms from the Uaua Block in the northeastern portion of the craton were dated using U-Pb on baddeleyite (ID-TIMS) and zircon (SIMS). The older dyke swarm trends mainl
A graphic method was developed for presentation of the location and extent of the myocardium at risk in patients with acute myocardial infarction (AMI). This method is based on a mathematical processing of ST-segment deviations of standard 12-lead electrocardiogram following the concept of Titomir and Ruttkay-Nedecky in their dipolar electrocardiotopographic method. The center of the location of t
The cystatin C gene (CST3) encodes a low-molecular-weight cysteine proteinase inhibitor belonging to family II of the cystatin super family and is mutated in cases of hereditary cystatin C amyloid angiopathy (HCCAA). CST3, which along with other family II cystatin genes is a member of the cystatin gene family, has been assigned to chromosome 20. To investigate the genomic organization on chromosom
Cladribine has single-drug activity in acute myeloid leukaemia (AML), and may enhance the formation of the active metabolite (ara-CTP) of cytosine arabinoside (ara-C). To evaluate the feasibility of adding intermittent cladribine to intermediate-dose ara-C (1 g/m(2)/2 h) b.i.d. for 4 d with idarubicin (CCI), we performed a 2:1 randomized phase II trial in AML patients aged over 60 years. Primary e
Hereditary defects of the von Willebrand factor (VWF) gene cause von Willebrand's disease (VWD) which shows great variability dependent on the nature and location of the mutation. We here describe the characteristics of a substitution of methionine for threonine 1156 in the D3 domain of the VWF, i.e. the domain involved in the intracellular multimerization of pro-VWF dimers. A VWD patient withseve
Using a recently introduced multiplex polymerase chain reaction and restriction fragment length polymorphism ABO genotype screening method we have found an anomalous ABO genotype (A2O1variant) not correlating with the serological phenotype (blood group O). The blood group was confirmed by absorption/elution and detection of blood group substances in saliva. Sequencing of exons 6 and 7 in the ABO g
To prospectively study the prevalence of Lyme arthritis, 100 consecutive patients referred to a rheumatology out-patient clinic and 115 patients with a classified rheumatological disease were included. Individuals seropositive for antibody against the Borrelia burgdorferi sensu lato complex were examined for clinical signs or a history of Lyme borreliosis. Positive titres against B. burgdorferi s.
Objective: Five double-blind, randomized, saline-controlled trials (RCTs) were included in the United States marketing application for an intra-articular hyaluronan (IA-HA) product for the treatment of osteoarthritis (OA) of the knee. We report an integrated analysis of the primary Case Report Form (CRF) data from these trials. Method. Trials were similar in design, patient population and outcome
Background Low competence levels among nursing staff have been associated with lower quality of elderly care. However, interventions aimed at improving nursing staff competence have not always been evaluated for their possible impact on the quality of elderly care. An educational intervention in the form of a workplace “toolbox” was shown to have positive effects on nursing staff competence and wo
This study shows the result of a simulation of a proposed kinetic reaction scheme of high-concentration (5000 ppm NO) and high-temperature (570–800 K) selective catalytic reduction of NO with NH3 on a commercial vanadia based catalyst at a system pressure of 2.2 bar. The simulations are performed with COMSOL Multiphysics ver. 5.1. Experimental data from a catalytic flow reactor can be nicely fitte
Anew search signature for excited leptons is explored. Excited muons are sought in the channel pp → μμ∗→ μμ jet jet, assuming both the production and decay occur via a contact interaction. The analysis is based on 20.3 fb-1 of pp collision data at a centre-of-mass energy of s = 8 TeV taken with the ATLAS detector at the large hadron collider. No evidence of excited muons is found, and limits are s
